{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157168",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.400G>A (p.Gly134Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137371[alleleid]",
        "alleleId": 137371,
        "preferredName": "NM_000051.4(ATM):c.400G>A (p.Gly134Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133632",
        "RCV": [
          "RCV000120157",
          "RCV000476735",
          "RCV000571088",
          "RCV000764934",
          "RCV003467070"
        ],
        "variationId": 133632
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108106465-G-A",
        "id": "11-108106465-G-A",
        "variant": "11:108106465 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108106465G>A?assembly=hg19",
        "id": "chr11:g.108106465G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108235738G>A?assembly=hg38",
        "id": "chr11:g.108235738G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2234998",
        "rs": 2234998
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108106465-G-A?dataset=gnomad_r2_1",
        "id": "11-108106465-G-A",
        "variant": "11:108106465 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108235738-G-A?dataset=gnomad_r3",
        "id": "11-108235738-G-A",
        "variant": "11:108235738 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108235738-G-A?dataset=gnomad_r4",
        "id": "11-108235738-G-A",
        "variant": "11:108235738 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108235738,
          "referenceAllele": "G",
          "start": 108235737
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108235738G>A",
        "CM000673.2:g.108235738G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108106465,
          "referenceAllele": "G",
          "start": 108106464
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108106465G>A",
        "CM000673.1:g.108106465G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107611675,
          "referenceAllele": "G",
          "start": 107611674
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107611675G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17907,
          "referenceAllele": "G",
          "start": 17906
        }
      ],
      "hgvs": [
        "NG_009830.1:g.17907G>A",
        "LRG_135:g.17907G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000518889.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682147.1:n.530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682430.1:n.499G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682956.1:n.534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684029.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508010.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000508010.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000508245.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684061.1:n.534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 6415,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684179.1:n.465+6415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000435747.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 6415,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.331+6415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.331+6415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000501606.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.400G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.400G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Gly134Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Gly134Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000435747.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 6415,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527891.5:c.331+6415G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433955.1:n.331+6415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4922,
          "referenceAllele": "G",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000530958.5:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483338.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000483338.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000601453.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469471.1:p.Gly134Ser",
        "hgvsWellDefined": "ENSP00000469471.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157170",
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.400G>A",
        "LRG_135t1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Gly134Ser",
        "hgvsWellDefined": "NP_000042.3:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Gly134Ser",
        "hgvsWellDefined": "XP_005271618.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Gly134Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541143.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 6415,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.331+6415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:n.331+6415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541148.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031272",
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Gly134Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Gly134Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 6415,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.331+6415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:n.331+6415G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.-623G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.-623G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_016873278.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_016873279.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_016873280.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Gly134Ser",
        "hgvsWellDefined": "XP_016873281.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.1133G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916031272",
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Gly134Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157170",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Gly134Ser",
        "hgvsWellDefined": "NP_000042.3:p.Gly134Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.400G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.400G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Gly134Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Gly134Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}